Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000371946 [[47023089, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037088, 47037211], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069856, 47069886]] [[47024246, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037088, 47037211], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
ENST00000371945 [[47023090, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069856, 47069909]] [[47024246, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
ENST00000341183 [[47023090, 47024472], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069856, 47069966]] [[47024433, 47024472], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
ENST00000528077 [[47024064, 47024472], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069856, 47069940]] [[47037796, 47037839], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
ENST00000428112 [[47024370, 47024472], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069898, 47069927]] [[47024433, 47024472], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
ENST00000531355 [[47027153, 47027345], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47048899, 47049001], [47059784, 47059952], [47069898, 47069951]] [[47042291, 47042326], [47048899, 47049001], [47059784, 47059818]]
ENST00000496619 [[47034127, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069898, 47069966]] [[47034127, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
ENST00000526513 [[47037829, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048485, 47048595], [47048899, 47049001], [47059784, 47059952], [47069856, 47069896]] [[47048548, 47048595], [47048899, 47049001], [47059784, 47059818]]
ENST00000484301 [[47039405, 47042326], [47046201, 47046299], [47048485, 47048577], [47048899, 47049001], [47051545, 47051646], [47059784, 47059878]] None
ENST00000545730 [[47040146, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47082382, 47082515]] [[47040604, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
ENST00000486716 [[47040497, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059903]] None
ENST00000529170 [[47042255, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069836, 47069927]] [[47042255, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
ENST00000531769 [[47042260, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47082382, 47082515]] [[47042260, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
ENST00000465783 [[47046105, 47046299], [47048899, 47049001], [47059784, 47059952]] [[47046159, 47046299], [47048899, 47049001], [47059784, 47059818]]
ENST00000474868 [[47046111, 47046299], [47048899, 47049001], [47051545, 47051646], [47059784, 47059933]] [[47051566, 47051646], [47059784, 47059818]]
ENST00000532110 [[47046267, 47046299], [47048899, 47049001], [47059784, 47059952], [47060539, 47060731]] [[47046267, 47046299], [47048899, 47049001], [47059784, 47059952], [47060539, 47060615]]
ENST00000525888 [[47050218, 47050475], [47051545, 47051646], [47059784, 47059952], [47069856, 47069918]] None
ENST00000342571 [[47023089, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47051545, 47051643]] [[47037796, 47037839], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47051545, 47051561]]
ENST00000371944 [[47023090, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47051545, 47051643]] [[47024246, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47042246, 47042326], [47046201, 47046224]]
ENST00000524749 [[47023904, 47024472], [47028320, 47028515], [47030712, 47030735]] [[47024433, 47024472], [47028320, 47028515], [47030712, 47030735]]
ENST00000532897 [[47024427, 47024472], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037972]] None
ENST00000530528 [[47027148, 47027314], [47028320, 47028707]] None
ENST00000470237 [[47027243, 47027314], [47028320, 47028515], [47030712, 47030808], [47033909, 47034109]] None
ENST00000524417 [[47028370, 47028515], [47030712, 47031098]] None
ENST00000460098 [[47028420, 47028515], [47030712, 47030808], [47033988, 47034134]] None
ENST00000532783 [[47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47051167, 47051232]] [[47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47048999]]
ENST00000528237 [[47037780, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47051545, 47051646], [47051905, 47051931]] [[47037780, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47051545, 47051561]]
ENST00000480531 [[47041939, 47042326], [47046201, 47046299], [47048899, 47049001], [47051545, 47051607]] None
ENST00000477883 [[47050175, 47050475], [47051545, 47051941]] None
ENST00000468852 [[47059194, 47059524], [47059784, 47059952], [47069856, 47069942]] None
NR_024176 [[47023078, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47051545, 47051646], [47059784, 47059952], [47069856, 47069966]] None
NM_003684 [[47023078, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037088, 47037211], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069856, 47069966]] [[47024246, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037088, 47037211], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
NM_001135553 [[47023078, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069856, 47069966]] [[47024246, 47024472], [47025905, 47025949], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
NR_024174 [[47023078, 47024472], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069856, 47069966]] None
NM_198973 [[47023078, 47024472], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059952], [47069898, 47069966]] [[47024433, 47024472], [47027149, 47027314], [47028320, 47028515], [47030712, 47030808], [47034114, 47034170], [47037734, 47037839], [47040618, 47040692], [47042246, 47042326], [47046201, 47046299], [47048899, 47049001], [47059784, 47059818]]
Promoter
Chrom Start End Description
chr1 47069901 47069946 CAGE_peak_1_at_MKNK1_5end
chr1 47069955 47069969 CAGE_peak_4_at_MKNK1_5end
chr1 47082476 47082491 CAGE_peak_3_at_MKNK1_5end
chr1 47082495 47082544 CAGE_peak_2_at_MKNK1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I046532 46532949 46533601 1.39 [{'connected_gene': 'EFCAB14', 'score': 10.46}, {'connected_gene': 'MKNK1', 'score': 4.43}, {'connected_gene': 'TEX38', 'score': 1.47}, {'connected_gene': 'LOC105378696', 'score': 0.77}, {'connected_gene': 'GC01P046525', 'score': 0.44}]
chr1 GH01I046749 46749029 46750650 0.69 [{'connected_gene': 'EFCAB14', 'score': 11.4}, {'connected_gene': 'CYP4X1', 'score': 5.74}, {'connected_gene': 'MKNK1', 'score': 4.66}, {'connected_gene': 'CYP4B1', 'score': 0.44}, {'connected_gene': 'GC01P046743', 'score': 0.44}, {'connected_gene': 'GC01M046749', 'score': 0.31}]
chr1 GH01I046653 46653229 46653962 0.62 [{'connected_gene': 'EFCAB14', 'score': 21.03}, {'connected_gene': 'MOB3C', 'score': 11.34}, {'connected_gene': 'MKNK1', 'score': 11.34}, {'connected_gene': 'NENFP1', 'score': 0.39}, {'connected_gene': 'ATPAF1', 'score': 0.34}, {'connected_gene': 'LOC105378697', 'score': 0.31}]
chr1 GH01I046675 46675346 46677604 0.92 [{'connected_gene': 'EFCAB14', 'score': 36.01}, {'connected_gene': 'MOB3C', 'score': 10.06}, {'connected_gene': 'MKNK1', 'score': 10.06}, {'connected_gene': 'EFCAB14-AS1', 'score': 0.77}, {'connected_gene': 'LOC105378698', 'score': 0.39}]
chr1 GH01I046607 46607422 46607826 0.31 [{'connected_gene': 'EFCAB14', 'score': 5.91}, {'connected_gene': 'GC01P046604', 'score': 0.77}, {'connected_gene': 'MOB3C', 'score': 0.44}, {'connected_gene': 'MKNK1', 'score': 0.44}]
chr1 GH01I046603 46603039 46605700 2 [{'connected_gene': 'MKNK1', 'score': 574.72}, {'connected_gene': 'GC01P046604', 'score': 550.77}, {'connected_gene': 'EFCAB14', 'score': 11.23}, {'connected_gene': 'TEX38', 'score': 10.86}, {'connected_gene': 'ATPAF1', 'score': 10.85}, {'connected_gene': 'EFCAB14-AS1', 'score': 10.85}, {'connected_gene': 'KNCN', 'score': 0.23}]
chr1 GH01I046622 46622072 46623178 0.82 [{'connected_gene': 'MKNK1', 'score': 13.5}, {'connected_gene': 'EFCAB14', 'score': 11.34}, {'connected_gene': 'TEX38', 'score': 10.91}, {'connected_gene': 'ATPAF1', 'score': 10.9}, {'connected_gene': 'EFCAB14-AS1', 'score': 10.9}, {'connected_gene': 'LOC105378697', 'score': 0.77}, {'connected_gene': 'MOB3C', 'score': 0.44}]
chr1 GH01I046594 46594013 46595999 0.89 [{'connected_gene': 'MKNK1', 'score': 38.06}, {'connected_gene': 'MOB3C', 'score': 11.54}, {'connected_gene': 'EFCAB14', 'score': 10.78}, {'connected_gene': 'TEX38', 'score': 10.46}, {'connected_gene': 'ATPAF1', 'score': 10.45}, {'connected_gene': 'EFCAB14-AS1', 'score': 10.45}, {'connected_gene': 'GC01P046604', 'score': 0.44}, {'connected_gene': 'KNCN', 'score': 0.26}]
chr1 GH01I046580 46580451 46581200 0.83 [{'connected_gene': 'MKNK1', 'score': 26.85}, {'connected_gene': 'GC01P046604', 'score': 0.34}, {'connected_gene': 'KNCN', 'score': 0.31}]
chr1 GH01I046583 46581650 46581958 0.63 [{'connected_gene': 'MKNK1', 'score': 27.55}, {'connected_gene': 'GC01P046604', 'score': 0.34}, {'connected_gene': 'KNCN', 'score': 0.29}]
chr1 GH01I046704 46704520 46705877 0.49 [{'connected_gene': 'ATPAF1', 'score': 11.1}, {'connected_gene': 'EFCAB14-AS1', 'score': 11.1}, {'connected_gene': 'TEX38', 'score': 11.09}, {'connected_gene': 'MOB3C', 'score': 10.77}, {'connected_gene': 'MKNK1', 'score': 10.77}, {'connected_gene': 'EFCAB14', 'score': 9.78}, {'connected_gene': 'PIR52630', 'score': 0.39}, {'connected_gene': 'LOC105378698', 'score': 0.37}]
chr1 GH01I046610 46610829 46617799 2.17 [{'connected_gene': 'MOB3C', 'score': 561.22}, {'connected_gene': 'MKNK1', 'score': 25.63}, {'connected_gene': 'GC01P046604', 'score': 0.44}]
chr1 GH01I046549 46549229 46550425 0.6 [{'connected_gene': 'KNCN', 'score': 550.77}, {'connected_gene': 'MKNK1', 'score': 8.06}, {'connected_gene': 'CMPK1', 'score': 4.45}, {'connected_gene': 'MKNK1-AS1', 'score': 0.39}]
chr1 GH01I046516 46516549 46518609 1.05 [{'connected_gene': 'KNCN', 'score': 11.97}, {'connected_gene': 'MOB3C', 'score': 5.03}, {'connected_gene': 'MKNK1', 'score': 5.0}, {'connected_gene': 'GC01P046525', 'score': 0.44}, {'connected_gene': 'DMBX1', 'score': 0.31}]
chr1 GH01I046519 46519827 46523387 1.47 [{'connected_gene': 'EFCAB14-AS1', 'score': 33.93}, {'connected_gene': 'GPBP1L1', 'score': 28.96}, {'connected_gene': 'LRRC41', 'score': 27.27}, {'connected_gene': 'RPL7AP16', 'score': 26.78}, {'connected_gene': 'DMBX1', 'score': 18.33}, {'connected_gene': 'RPS15AP10', 'score': 11.99}, {'connected_gene': 'KNCN', 'score': 11.95}, {'connected_gene': 'EFCAB14', 'score': 11.06}, {'connected_gene': 'MOB3C', 'score': 10.78}, {'connected_gene': 'TEX38', 'score': 10.04}, {'connected_gene': 'ATPAF1', 'score': 10.04}, {'connected_gene': 'MKNK1', 'score': 6.61}, {'connected_gene': 'CYP4Z1', 'score': 4.92}, {'connected_gene': 'FAAH', 'score': 4.58}, {'connected_gene': 'GC01P046525', 'score': 0.77}]
chr1 GH01I046606 46606249 46606398 0.2 [{'connected_gene': 'GC01P046604', 'score': 550.77}, {'connected_gene': 'MKNK1', 'score': 25.6}]
chr1 GH01I046581 46581401 46581601 0.46 [{'connected_gene': 'GC01P046604', 'score': 0.34}, {'connected_gene': 'KNCN', 'score': 0.31}, {'connected_gene': 'MKNK1', 'score': 0.28}]
chr1 GH01I046582 46581969 46582118 0.62 [{'connected_gene': 'GC01P046604', 'score': 0.34}, {'connected_gene': 'KNCN', 'score': 0.29}, {'connected_gene': 'MKNK1', 'score': 0.29}]
chr1 GH01I046527 46527049 46527258 0.74 [{'connected_gene': 'GC01P046525', 'score': 550.77}, {'connected_gene': 'DMBX1', 'score': 12.59}, {'connected_gene': 'KNCN', 'score': 11.99}, {'connected_gene': 'EFCAB14', 'score': 10.05}, {'connected_gene': 'MKNK1', 'score': 5.19}, {'connected_gene': 'LOC105378696', 'score': 0.44}]